ORPHA:251863
Desmoplastic/nodular medulloblastoma
- Type
- Histopathological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Desmoplastic/nodular medulloblastoma | |
| fr | Médulloblastome desmoplasique/nodulaire | Médulloblastome à nodularité mixte |
| de | Medulloblastom, desmoplastisches/noduläres | |
| es | Meduloblastoma desmoplásico/nodular | |
| it | Medulloblastoma desmoplastico/nodulare | |
| nl | Desmoplastisch/nodulair medulloblastoom | |
| pt | Meduloblastoma desmoplásico/nodular | |
| pl | Rdzeniak zarodkowy desmoplastyczny/guzkowy | |
| cs | Desmoplastický/nodulární meduloblastom | |
| uk | Десмопластична/вузлова медулобластома | |
| zh | 促结缔组织增生性/结节性成神经管细胞瘤 | |
| tr | Desmoplastik / nodüler medulloblastom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155255 | NTBT | validated | |
| ICD-10 | C71.6 | NTBT | attributed | validated |
| ICD-11 | 2A00.10 | NTBT | index | validated |
| ICD-11 | XH7PN5 | E | specific | validated |
| MONDO | 0016711 | E | validated | |
| UMLS | C0751291 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:616Medulloblastoma
rare neurological diseases; rare neoplastic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SUFU | Major susceptibility factor in | Assessed | HGNC:16466 | ENSG00000107882 | 607035 | 10q24.32 | SUFU negative regulator of hedgehog signaling | 21188540[PMID]_22508808[PMID]_12068298[PMID]_19833601[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.01 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251863
- This record as JSON: /data/d/251863.json